Uma ufunde ukuthi wena noma othandekayo unomntwana onesifo sikaPompe, kungenzeka ukuthi uyesaba. Iyini ngempela le disorder? Ziyini izinhlobo ezahlukene zesifo? Futhi kutholakala kanjani futhi uphathwe kanjani?
Izifo Zompompe noma Isifo Sokugcina Glycogen II (GSD-II)
Isifo se-Pompe, esaziwa nangokuthi iglycogen isifo sehlobo II (GSD-II) noma i-acid maltase, isinye sezinkinga ezingu-49 eziyaziwa nge-lysosomal storage.
Igama elithi Pompe isuka ku-pathologist waseDutch uJC Pompe, oqale wachaza usana olunezifo ngo-1932. Isifo se-Pompe sithinta abantu abangaba ngu-5 000 kuya ku-10 000 emhlabeni jikelele. E-United States, kulinganiselwa ukuthi kuthinta abantu abangu-40 000.
Isifo se-Pompe sibangelwa ukuntuleka noma ukungabi nalutho okuphelele kwe-enzyme okuthiwa i-acid alpha-glucosidase. Uma le enzyme ingasebenzi kahle, i-glycogen, ushukela oyinkimbinkimbi, iyakha emangqamuzaneni omzimba futhi ibangele ukulimala kwesitho nomzimba. Lesi sakhi siyakuthinta kakhulu imisipha yomzimba, okuholela ekubuthakathaka komzimba kwamasipha. Ukuntuleka kwe-enzyme kungasongela impilo lapho imisipha yokuphefumula nenhliziyo ishintshwe. Isimo sinezici zofuzo, futhi bobabili abazali kumele baphathe isakhi sofuzo somntanakho ukuze sizuze ifa.
Kunezinhlobo ezimbili zezifo zikaPompe - ukuvuka kwezingane ezincane kanye nokuqala kwesikhathi-kokubili okubangelwa ubuthakathaka bomzimba. Indlela lesi sifo esiqhubeka ngayo sincike ekutheni iqala kanjani ekuqaleni.
Izifo Ze-Pump Insettile-Onset
Ukuqala kwe-infantile kubhekwa njengesifo esinzima sePompe. Isimo ngokuvamile sivela ezinyangeni ezimbalwa zokuqala zokuphila. Izinsana zibuthakathaka futhi zinenkinga yokubamba izinhloko. Izinhlanzi zabo zezinhliziyo ziba nesifo futhi izinhliziyo zabo zikhuliswe futhi zibuthakathaka. Bangase babe nezilimi ezinkulu, ezihamba phambili nesibindi esandisiwe.
Ezinye izimpawu zifaka:
- Ukuhluleka ukukhula nokuthola isisindo (ukwehluleka ukuphumelela)
- Ukukhubazeka kwenhliziyo nokushaya kwenhliziyo okungavamile
- Ukuphefumula okunzima okungafaka phakathi ukuphazamiseka kweziphetho
- Ukudla okunzima nokugwinya
- Amaphuzu amancane okuthuthukiswa afana nokugwedla noma ukugwaza
- Izinkinga ezithinta izingalo nemilenze
- Ukuzwa ukulahlekelwa
Lesi sifo siphuthuma ngokushesha, kanti izingane zifa ngokuhluleka kwenhliziyo nokubuthakathaka kokuphefumula ngaphambi kokuzalwa kwabo kokuqala. Izingane ezithintekile zingaphila isikhathi eside ngokungenelela okufanele kwezokwelapha.
Izifo Zompompo Eziphuthumayo
Isifo esiphezulu se-Pompe sifo sivame ukuqala ngezimpawu zokubuthakathaka komzimba okungaqala nganoma isiphi isikhathi kusukela ebuntwaneni besencane kuze kufike ekukhuleni. Ubuthakathaka bemisipha bubuthinta isigamu esingaphansi komzimba ngaphezu kwamaphethelo aphezulu. Lesi sifo sihamba kancane kancane kunendlela encane, kodwa abantu abanayo banesikhathi esifushane sokuphila.
Ukulinda kwesikhathi sokuphila kuxhomeke lapho isimo siqala futhi ukuthi izimpawu ziqhubeka kanjani ngokushesha. Izimpawu ezifana nobunzima bokuhamba noma ukukhuphuka izitebhisi ziqala futhi ziqhubeke kancane kancane eminyakeni. Njengokuqala kokuqala, abantu abanezinkinga zokuphefumula bangase bahlakulele nezinkinga zokuphefumula. Njengoba lesi sifo sithuthuka, abantu bahlala ngesihlalo sabakhubazekile noma balala phansi futhi bangadinga ukuphefumulela ukuphefumula.
Ukuxilongwa
Isifo se-Pompe ngokuvamile sitholwa ngemuva kokuqhubeka kwesifo. Kubantu abadala, isifo sePompe singase sididaniswe nezinye izifo ezingenangqondo ezinjenge- multiple sclerosis . Uma udokotela wakho esolwa ngesifo se-Pompe, angase ahlole umsebenzi we-enzyme acid i-alpha-glucosidase kumaseli esikhumba akhuliswe. Kubantu abadala, ukuhlolwa kwegazi kungasetshenziselwa ukunquma ukunciphisa noma ukungabi khona kwale enzyme.
Ukwelapha
Umuntu onesifo sePompe uzodinga ukunakekelwa okwelapha okukhethekile ezivela ku-geneticists, ochwepheshe be-metabolic, kanye neurologists. Abantu abaningi bathola ukudla okuphezulu kwamaprotheni ukuze kube usizo, kanye nokuzivocavoca nsuku zonke.
Ukuhlolwa kwezempilo njalo kuvamile njengoba lesi sifo siqhubeka.
Ngo-2006, i-European Medicines Agency (EMEA) kanye ne-US Food and Drug Administration (FDA) bobabili banikeze imvume yokuthengisa yeMyozyme yezidakamizwa ukuphatha isifo sePompe. Ngo-2010, uLumizyme wamukelwa. I-Myozyme ingenxa yeziguli ezingaphansi kweminyaka engu-8 ngenkathi uLumizyme ivunywa kulabo abangaphezu kweminyaka engu-8. Bobabili izidakamizwa zithatha indawo ye-enzyme engekho, ngakho-ke kusiza ukunciphisa izimpawu zesimo. Bobabili i-Myozyme ne-Lumizyme zithunyelwa ngezikhathi zonke emasontweni amabili.
Imithombo:
Sibutsetelo sePompe DiseasePompe Community. 2005. Genzyme Corporation.
AMD - Acid Maltase Inselelo - Izifo ZePompe. 1997. Inhlangano ye-Acid Maltase Deficiency Association.
Inhlangano Kazwelonke Yezifo Ezinzima (NORD). I-Pompe Disease (2013).